title: 335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.
authors.affiliation: Center for General Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center at Dallas, 75235-8885, USA.
authors.forename: W L
authors.initials: WL
authors.lastname: Gitomer
authors.forename: B Y
authors.initials: BY
authors.lastname: Reed
authors.forename: L A
authors.initials: LA
authors.lastname: Ruml
authors.forename: C Y
authors.initials: CY
authors.lastname: Pak
mesh_terms: D000328:Adult; D026923:Amino Acid Transport Systems, Basic; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; C499489:SLC7A9 protein, human